A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687373



Internal ID111039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44983377..49709767hg38UCSC Ensembl
chr13:45557512..50283903hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg384726391
hg194726392
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561330
Supporting Variants
Samples
Known GenesARL11, CAB39L, CDADC1, COG3, CPB2, CPB2-AS1, CYSLTR2, EBPL, ESD, FAM194B, FNDC3A, GPALPP1, GTF2F2, HTR2A, HTR2A-AS1, ITM2B, KCTD4, KIAA0226L, KPNA3, LCP1, LINC00441, LINC00462, LINC00563, LPAR6, LRCH1, LRRC63, MED4, MED4-AS1, MLNR, NUDT15, NUFIP1, PHF11, RB1, RCBTB1, RCBTB2, SETDB2, SIAH3, SLC25A30, SNORA31, SPERT, SUCLA2, TPT1, TPT1-AS1, ZC3H13
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687373
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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